Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Nature Genetics

Volumn 10, Issue 3, 1995, Pages 325-329

  Hecht, Jacqueline T ^a   Nelson, Laura D ^a   Crowder, Eric ^a   Wang, Yang ^a   Elder, Frederick F B ^a   Harrison, Wilbur R ^a   Francomano, Clair A ^b   Prange, Christa K ^c   Lennon, Gregory G ^c   Deere, Michelle ^a   Lawler, Jack ^d  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MATRIX PROTEIN;

ACHONDROPLASIA; ARTICLE; CARTILAGE; DWARFISM; EXON; GENE MAPPING; GENE MUTATION; HUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ACHONDROPLASIA; BASE SEQUENCE; CARTILAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; DNA PRIMERS; EXONS; FEMALE; GLYCOPROTEINS; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0029035708     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0795-325     Document Type: Article

References (36)

1. Wynne-Davies, R., Hall, C. M. & Young, I. D. Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindred). J. med. Genet. 23, 425-434 (1986).
2. Spranger, J. W., Langer, Jr., L. O. & Wiedemann, H.-R. Bonedysplasia: an atlas of constitutional disorders of skeletal development. (W. B. Saunders, Philadelphia, 1974).
3. Hecht. J. T. et al. Linkage of typical pseudoachondroplasia to chromosome 19. Genomics 18, 661-666 (1993).
4. Briggs, M. D. et al. Genetic linkage of pseudoachondroplasia to markers in the pericentric region of chromosome 19. Genomics 18, 656-660 (1993).
5. Newton, G. et al. Characterization of human and mouse cartilage oligomeric matrix protein. Genomics 24, 435-439 (1994).
6. Adams, J. & Lawler, J. The thrombospondin family. Curr. Biol. 3, 188-190 (1993).
7. Bornstein, P., Thrombospondins: Structure and regulation of expression. FASEB J. 6, 3290-3299 (1992).
8. Lawler, J. Thrombospondins. in Molecular Basis of Thrombosis and Hemostasis. (eds High, K. A. & Roberts, H. R.) (Marcel Dekker, New York, 1995).
9. Sage, H. & Bornstein, P. Extracellular proteins that modulate cell-matrix interactions: SPARC, tenascin and thrombospondin. J. biol. Chem. 266, 14831-14834 (1991).
10. Hedbom, E. et al. Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage. J. biol. Chem. 267, 6132-6136 (1992).
11. Morgelin, M., Heinegard, D., Engel, J. & Paulsson, M. Electron microscopy of native oligomeric matrix protein purified from the swarm ratchondrosarcoma reveals a five-armed structure. J. biol. Chem. 267, 6137-6141 (1992).
12. Oldberg, A., Antonsson, P., Lindblom, K. & Heinegard, D. COMP (Cartilage oligomeric matrix protein) is structurally related to the thrombospondins. J. biol. Chem. 267, 22346-22350 (1992).
13. DiCesare, P. E., Morgelin, M., Mann, K. & Paulsson, M. Cartilage oligomeric matrix protein and thrombospondin-1: Purification from articular cartilage electron microscopic structure and chondrocyte binding. Eur. J. Biochem. 223, 927-937 (1994).
14. Bornstein, P., Devarayalu, S., Edelhoff, S. & Disteche, C. M. Isolation and characterization of the mouse thrombospondin 3 (THBS3) gene. Genomics 15, 607-613 (1993).
15. Knowlton, R. G. et al. Precise localization of multiple epiphyseal dysplasia and pseudoachondroplasia mutations by genetic and physical mapping of chromosome 19. Am. J. hum. Genet. 55, A190, 1106 (1994).
16. Kretsinger, R. H. raphic studies of calmodulin and homologs. Proc. natn. Acad. Sci. U. S. A. 356, 14-19, (1980).
17. Lawler, J. & Simons, E. Cooperative binding of calcium to thrombospondin-1. J. biol. Chem. 258, 12098-12101 (1983).
18. Misenheimer, T. H. & Mosher, D. F. Calcium ion binding to thrombospondin 1. J. biol. Chem. 270, 1729-1733, (1995).
19. Heinegard, D. & Oldberg, A. Glycosolated Matrix Proteins. in Connective Tissue and Its Heritable Disorders 189-209 (Wiley-Liss, New York, 1993).
20. Stanescu, R., Stanescu, V., Muriel, M.-P. & Maroteaux, P. Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage. Am. J. med. Genet. 45, 501-507 (1993).
21. Stanescu, V., Do, T. P., Chaminade, F., Maroteaux, P. & Stanescu, R. Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin. Am. J. hum. Genet. 51, 22-28 (1994).
22. Pedrini-Mille, A., Maynard, J. A. & Pedrini, V. A. Pseudoachondroplasia: biochemical and histochemical studies of cartilage. J. Bone Jt. Surg. 66A, 1408-1414 (1984).
23. Maynard, J. A., Cooper, R. R. & Poinsetti, I. V. A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. Lab. Invest. 26, 40-44 (1972).
24. Ellard, J. T. et al. Comparative studies of in vivo and in vitro human chondrocytes. Texas Soc. elec. Microsc., abstract, (1989).
25. Cooper, R. R., Poinsetti, I. V. & Maynard, J. A. Pseudoachondroplastic dwarfism. A rough surfaced endoplasmic reticulum storage disorder. J. Bone Jt. Surgery 55A, 475-484 (1973).
26. Finkelstein, J. E. et al. Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. Am. J. hum. Genet. 48, 97-102 (1991).
27. Hecht, J. T. et al. Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. Am. J. hum. Genet. 44, 420-424 (1992).
28. Qabar, A. N. et al. Thrombospondin-3 is a developmentally regulated heparin binding protein. J. biol. Chem. 269, 1262-1269 (1994).
29. Guo, N.-H., Krutzsch, H. C., Negre, E., Zabrenetzky, V. S. & Roberts, D. D. Heparin-binding peptides from the type 1 repeats of thrombospondin: Structural requirements for heparin binding and promotion of melanoma cell adhesion and chemotaxis. J. biol. Chem. 267, 19349-19355 (1992).
30. Lawler, J., Ferro, P. & Duquette, M. Expression and mutagenesis of thrombospondin. Biochemistry 31, 1173-1180 (1992).
31. Prockop, D. J. Osteogenesis Imperfecta: Phenotypic heterogeneity, protein suicide, short and long collagen. Am. J. hum. Genet. 36, 499-505 (1984).
32. Jacenko, O., LuValle, P. A., Olsen, B. R. Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Nature 365, 56-61 (1993).
33. Gelliss, S. S. & Feingold, M. Pseudoachondroplasia(pseudoachondroplastic spondyloepiphyseal dysplasia). Am. J. Dis. Child. 128, 833-834 (1974).
34. Hall, J. G., Dorst, J. P., Rotta, J. & McKusick, V. A. Gonadal mosaicism in pseudoachondroplasia. Am. J. hum. Genet. 28, 143-151 (1987).
35. Mewar, R., Harrison, W. & Overhauser, J. Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situhybridization. Cytogenet. Cell Genet. 64, 1-4 (1993).
36. Sambrook, J., Fritsch, F. & Maniatis, T. Molecular cloning. A laboratory manual, 2nd edn (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1989).